DisGeNET - a database of gene-disease associations

LIPT2, lipoyl(octanoyl) transferase 2, 387787

N. diseases: 20; N. variants: 3

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1190703859

Entrez Id:	387787;100287896
Gene Symbol:	LIPT2;LOC100287896

LIPT2;LOC100287896

CUI:	C4540052
Disease:

ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES

0.800

GeneticVariation

CLINVAR

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

28757203

2017

dbSNP:

rs539962457

Entrez Id:	387787;100287896
Gene Symbol:	LIPT2;LOC100287896

LIPT2;LOC100287896

CUI:	C4540052
Disease:

ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES

0.800

GeneticVariation

UNIPROT

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

28757203

2017

dbSNP:

rs539962457

Entrez Id:	387787;100287896
Gene Symbol:	LIPT2;LOC100287896

LIPT2;LOC100287896

CUI:	C4540052
Disease:

ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES

0.800

GeneticVariation

CLINVAR

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

28757203

2017

dbSNP:

rs753904927

Entrez Id:	387787;100287896
Gene Symbol:	LIPT2;LOC100287896

LIPT2;LOC100287896

CUI:	C4540052
Disease:

ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES

0.800

GeneticVariation

CLINVAR

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

28757203

2017

dbSNP:

rs753904927

Entrez Id:	387787;100287896
Gene Symbol:	LIPT2;LOC100287896

LIPT2;LOC100287896

CUI:	C4540052
Disease:

ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES

0.800

GeneticVariation

UNIPROT

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

28757203

2017

dbSNP:

rs1190703859

Entrez Id:	387787;100287896
Gene Symbol:	LIPT2;LOC100287896

LIPT2;LOC100287896

CUI:	C4540052
Disease:

ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES

0.800

CausalMutation

CLINVAR

dbSNP:

rs1190703859

Entrez Id:	387787;100287896
Gene Symbol:	LIPT2;LOC100287896

LIPT2;LOC100287896

CUI:	C4540052
Disease:

ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES

0.800

GeneticVariation

UNIPROT

dbSNP:

rs539962457

Entrez Id:	387787;100287896
Gene Symbol:	LIPT2;LOC100287896

LIPT2;LOC100287896

CUI:	C4540052
Disease:

ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES

0.800

CausalMutation

CLINVAR

dbSNP:

rs753904927

Entrez Id:	387787;100287896
Gene Symbol:	LIPT2;LOC100287896

LIPT2;LOC100287896

CUI:	C4540052
Disease:

ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES

0.800

CausalMutation

CLINVAR